{"id":"W2039507753","doi":"10.1016/j.ajhg.2009.11.009","title":"Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation","year":2009,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":128,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children; Centre for Addiction and Mental Health","funders":"Government of Ontario; National Alliance for Research on Schizophrenia and Depression","keywords":"Genetics; Single-nucleotide polymorphism; Biology; Exon; Candidate gene; Gene; Disease gene identification; Phenotype; Microcephaly; SNP; Genotype; Exome sequencing","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001143232,0.0009634487,0.0003217615,0.001029462,0.0005486879,0.0002984958,0.0006102848,0.001118759,0.001818086],"category_scores_gemma":[0.0006243953,0.0003552157,0.0004966027,0.00043127,0.0008500325,0.0001534958,0.0005649875,0.0005019514,0.0006975523],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004350531,"about_ca_system_score_gemma":0.0004500071,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002676817,"about_ca_topic_score_gemma":0.004698486,"domain_scores_codex":[0.9997843,0.00002446924,0.00003567152,0.0000519078,0.00007487094,0.00002887515],"domain_scores_gemma":[0.9994608,0.0001565498,0.0001651716,0.0000306065,0.00003770326,0.0001493501],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008911886,0.0001589949,0.004748349,0.0001078617,0.0001013082,0.05781472,0.0001561269,0.0008568593,0.9290532,0.0008587941,0.0005376306,0.004714952],"study_design_scores_gemma":[0.0003857125,0.0008151578,0.08543645,0.00008157022,0.0004056083,0.2452371,0.0003274179,0.006240664,0.6508986,0.0009254469,0.009108976,0.0001372796],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912857,0.0004560748,0.004289713,0.0002449292,0.0001207457,0.00008497088,0.001574314,0.0001851324,0.001758406],"genre_scores_gemma":[0.9949995,0.000217986,0.002578522,0.00008028479,0.00002255467,0.00002708714,0.0005887288,0.0000632915,0.001421995],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002676817,"threshold_uncertainty_score":0.006082118,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00900216371789328,"score_gpt":0.2779160983103826,"score_spread":0.2689139345924894,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}